Incidental Mutation 'R0359:Fcsk'
ID 261858
Institutional Source Beutler Lab
Gene Symbol Fcsk
Ensembl Gene ENSMUSG00000033703
Gene Name fucose kinase
Synonyms L-fucose kinase, 1110046B12Rik, Fuk
MMRRC Submission 038565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0359 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 111609088-111629120 bp(-) (GRCm39)
Type of Mutation splice site (30 bp from exon)
DNA Base Change (assembly) T to C at 111619891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041382] [ENSMUST00000212971]
AlphaFold Q7TMC8
Predicted Effect probably null
Transcript: ENSMUST00000041382
SMART Domains Protein: ENSMUSP00000039271
Gene: ENSMUSG00000033703

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
Pfam:Fucokinase 94 496 1.7e-101 PFAM
low complexity region 807 821 N/A INTRINSIC
Pfam:GHMP_kinases_N 827 894 3.6e-9 PFAM
Pfam:GHMP_kinases_C 970 1052 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212568
Predicted Effect probably benign
Transcript: ENSMUST00000212971
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,181 (GRCm39) Y255* probably null Het
2310003L06Rik A T 5: 88,112,455 (GRCm39) probably benign Het
Abcb5 A G 12: 118,904,067 (GRCm39) S213P probably damaging Het
Agpat1 A G 17: 34,829,551 (GRCm39) I42V probably benign Het
Apoh A T 11: 108,288,199 (GRCm39) I106F probably damaging Het
BB014433 G T 8: 15,092,540 (GRCm39) C104* probably null Het
Bsn C T 9: 107,989,045 (GRCm39) G2236S possibly damaging Het
Casp9 A G 4: 141,521,221 (GRCm39) E19G probably damaging Het
Ces1g T C 8: 94,055,163 (GRCm39) probably benign Het
Cfap65 T A 1: 74,959,760 (GRCm39) M797L probably benign Het
Col14a1 A G 15: 55,271,264 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col27a1 G T 4: 63,232,964 (GRCm39) probably null Het
Col6a4 T A 9: 105,874,345 (GRCm39) H2214L probably benign Het
Ctu2 T G 8: 123,204,932 (GRCm39) S72R probably damaging Het
Cyp24a1 T A 2: 170,333,619 (GRCm39) M245L possibly damaging Het
Dgkb T A 12: 38,266,030 (GRCm39) V503E probably benign Het
Diaph3 T C 14: 87,206,938 (GRCm39) R501G probably benign Het
Dip2b A G 15: 100,109,874 (GRCm39) D1453G probably damaging Het
Dnah2 G A 11: 69,420,357 (GRCm39) T119M probably benign Het
F5 T G 1: 164,007,018 (GRCm39) V274G probably damaging Het
Farp1 A T 14: 121,492,808 (GRCm39) probably benign Het
Foxf1 T C 8: 121,811,742 (GRCm39) V202A possibly damaging Het
Fras1 G A 5: 96,910,449 (GRCm39) V3293I probably damaging Het
Furin C T 7: 80,041,032 (GRCm39) G602D probably damaging Het
Gclm T C 3: 122,049,269 (GRCm39) probably benign Het
Gemin4 G A 11: 76,102,988 (GRCm39) T591M probably benign Het
Glrx3 T C 7: 137,055,214 (GRCm39) S119P possibly damaging Het
Gm16485 G T 9: 8,972,437 (GRCm39) probably benign Het
Helq T C 5: 100,938,066 (GRCm39) N460S probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Kpna2 A G 11: 106,882,148 (GRCm39) L226S probably damaging Het
Myom3 G A 4: 135,505,454 (GRCm39) V448M probably damaging Het
Nalcn A G 14: 123,536,580 (GRCm39) S1224P probably damaging Het
Or52n2 A T 7: 104,542,521 (GRCm39) F105I probably damaging Het
Or56b1b C T 7: 108,164,721 (GRCm39) D94N probably benign Het
Or7a38 A G 10: 78,753,177 (GRCm39) T168A probably benign Het
Plag1 C T 4: 3,904,546 (GRCm39) C215Y probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pot1a G A 6: 25,771,679 (GRCm39) probably benign Het
Ppfia1 T C 7: 144,038,929 (GRCm39) D494G probably damaging Het
Ppp1r1a T A 15: 103,441,915 (GRCm39) D51V probably damaging Het
Ptprz1 T A 6: 22,973,175 (GRCm39) probably benign Het
Rad51ap1 A T 6: 126,911,704 (GRCm39) V61D probably damaging Het
Reln G A 5: 22,253,798 (GRCm39) L605F probably damaging Het
Riok3 T C 18: 12,282,006 (GRCm39) I325T probably damaging Het
Sclt1 A T 3: 41,616,005 (GRCm39) probably null Het
Slc25a39 A G 11: 102,297,395 (GRCm39) V24A possibly damaging Het
Slc9a3 T G 13: 74,305,726 (GRCm39) S248A probably damaging Het
Slco6d1 T A 1: 98,394,422 (GRCm39) C369S probably benign Het
Spen T C 4: 141,244,181 (GRCm39) S285G unknown Het
Stxbp5l A G 16: 37,036,440 (GRCm39) probably benign Het
Thsd7a G A 6: 12,352,030 (GRCm39) P1055L probably damaging Het
Tmed3 C T 9: 89,581,842 (GRCm39) S207N possibly damaging Het
Trerf1 G T 17: 47,652,062 (GRCm39) noncoding transcript Het
Triml1 A T 8: 43,583,542 (GRCm39) V353E probably damaging Het
Ttn G A 2: 76,549,401 (GRCm39) R31759C probably damaging Het
Ugt2b37 T C 5: 87,398,443 (GRCm39) Q331R probably benign Het
Urb1 A G 16: 90,588,048 (GRCm39) I420T probably damaging Het
Vmn1r68 A T 7: 10,261,201 (GRCm39) L299Q probably damaging Het
Vmn1r81 T A 7: 11,993,877 (GRCm39) T244S probably damaging Het
Vps13a A G 19: 16,618,941 (GRCm39) F2875S probably damaging Het
Wscd1 A G 11: 71,657,692 (GRCm39) M166V probably damaging Het
Zfp296 T C 7: 19,313,864 (GRCm39) Y240H possibly damaging Het
Zfp462 A G 4: 55,013,689 (GRCm39) H737R probably damaging Het
Other mutations in Fcsk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Fcsk APN 8 111,617,108 (GRCm39) missense possibly damaging 0.75
IGL01963:Fcsk APN 8 111,620,034 (GRCm39) missense probably damaging 1.00
IGL01986:Fcsk APN 8 111,609,889 (GRCm39) missense probably benign
PIT4283001:Fcsk UTSW 8 111,614,064 (GRCm39) missense probably benign 0.05
R0008:Fcsk UTSW 8 111,610,865 (GRCm39) splice site probably benign
R0032:Fcsk UTSW 8 111,618,735 (GRCm39) missense possibly damaging 0.55
R0032:Fcsk UTSW 8 111,618,735 (GRCm39) missense possibly damaging 0.55
R0057:Fcsk UTSW 8 111,620,400 (GRCm39) splice site probably benign
R0057:Fcsk UTSW 8 111,620,400 (GRCm39) splice site probably benign
R0280:Fcsk UTSW 8 111,621,380 (GRCm39) missense probably damaging 1.00
R0285:Fcsk UTSW 8 111,620,349 (GRCm39) missense probably benign 0.08
R0587:Fcsk UTSW 8 111,609,957 (GRCm39) missense probably damaging 0.98
R1528:Fcsk UTSW 8 111,609,873 (GRCm39) missense probably damaging 1.00
R1731:Fcsk UTSW 8 111,621,455 (GRCm39) missense probably damaging 0.96
R1907:Fcsk UTSW 8 111,620,010 (GRCm39) nonsense probably null
R2152:Fcsk UTSW 8 111,615,704 (GRCm39) missense probably benign 0.03
R2154:Fcsk UTSW 8 111,615,704 (GRCm39) missense probably benign 0.03
R2392:Fcsk UTSW 8 111,616,356 (GRCm39) missense probably benign
R3037:Fcsk UTSW 8 111,621,350 (GRCm39) splice site probably null
R3714:Fcsk UTSW 8 111,613,891 (GRCm39) missense probably damaging 1.00
R3765:Fcsk UTSW 8 111,613,736 (GRCm39) missense probably benign 0.00
R4307:Fcsk UTSW 8 111,618,712 (GRCm39) nonsense probably null
R4404:Fcsk UTSW 8 111,616,933 (GRCm39) missense probably benign 0.03
R4768:Fcsk UTSW 8 111,618,766 (GRCm39) missense probably benign 0.00
R4998:Fcsk UTSW 8 111,614,435 (GRCm39) missense probably damaging 0.96
R5009:Fcsk UTSW 8 111,614,462 (GRCm39) missense probably damaging 0.99
R5253:Fcsk UTSW 8 111,610,499 (GRCm39) missense possibly damaging 0.90
R6257:Fcsk UTSW 8 111,617,177 (GRCm39) missense probably benign 0.00
R6430:Fcsk UTSW 8 111,610,748 (GRCm39) missense probably benign 0.16
R6536:Fcsk UTSW 8 111,610,511 (GRCm39) missense possibly damaging 0.47
R6599:Fcsk UTSW 8 111,619,915 (GRCm39) splice site probably null
R6799:Fcsk UTSW 8 111,620,050 (GRCm39) missense probably benign
R7051:Fcsk UTSW 8 111,616,971 (GRCm39) missense probably damaging 0.97
R7184:Fcsk UTSW 8 111,613,788 (GRCm39) missense probably damaging 1.00
R7241:Fcsk UTSW 8 111,622,529 (GRCm39) missense probably benign
R7448:Fcsk UTSW 8 111,616,963 (GRCm39) missense possibly damaging 0.93
R8081:Fcsk UTSW 8 111,615,783 (GRCm39) missense probably benign
R8094:Fcsk UTSW 8 111,622,604 (GRCm39) missense probably damaging 1.00
R8692:Fcsk UTSW 8 111,615,722 (GRCm39) missense probably benign 0.06
R9036:Fcsk UTSW 8 111,614,064 (GRCm39) missense probably benign 0.05
R9172:Fcsk UTSW 8 111,610,557 (GRCm39) missense probably damaging 1.00
R9471:Fcsk UTSW 8 111,610,041 (GRCm39) missense probably benign 0.01
R9580:Fcsk UTSW 8 111,616,813 (GRCm39) missense probably damaging 0.99
R9733:Fcsk UTSW 8 111,615,563 (GRCm39) missense probably benign 0.01
R9780:Fcsk UTSW 8 111,613,743 (GRCm39) missense probably benign
Predicted Primers
Posted On 2015-02-04